ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.819-8T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002976085 SCV003287970 likely benign Megaconial type congenital muscular dystrophy 2022-02-02 criteria provided, single submitter clinical testing

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